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Intellectual and Developmental Disabilities Research Center

Houston, Texas

Intellectual and Developmental Disabilities Research Center
Intellectual and Developmental Disabilities Research Center
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2003 Publications

  1. Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N (2003). Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425: 628-633.
  2. Arnaud P, Monk D, Hitchins M, Gordon E, Dean W, Beechey CV, Peters J, Craigen W, Preece M, Stanier P, Moore GE, Kelsey G (2003). Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark. Hum. Mol. Genet. 12: 1005-1019.
  3. Assadi AH, Zhang G, Beffert U, McNeil RS, Renfro AL, Niu S, Quattrocchi CC, Antalffy BA, Sheldon M, Armstrong DD, Wynshaw-Boris A, Herz J, D'Arcangelo G, Clark GD (2003). Interaction of reelin signaling and Lis1 in brain development. Nat. Genet. 35: 270-276.
  4. Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N (2003). Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2. Am. J. Hum. Genet. 72: 650-658.
  5. Badano JL, Kim JC, Hoskins BE, Lewis RA, Ansley SJ, Cutler DJ, Castellan C, Beales PL, Leroux MR, Katsanis N (2003). Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum. Mol. Genet. 12: 1651-1659.
  6. Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N (2003). Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome. Am. J. Hum. Genet. 72: 1187-1199.
  7. Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, Mancias P, Papasozomenos SC, Stern LZ, Lupski JR (2003). CMT4A: Identification of a Hispanic GDAP1 founder mutation. Ann. Neurol. 53: 400-405.
  8. Cai D, Leem JY, Greenfield JP, Wang P, Kim BS, Wang R, Lopes KO, Kim SH, Zheng H, Greengard P, Sisodia SS, Thinakaran G, Xu H (2003). Presenilin-1 regulates intracellular trafficking and cell surface delivery of beta-amyloid precursor protein. J. Biol. Chem. 278: 3446-3454.
  9. Chan CS, Weeber EJ, Kurup S, Sweatt JD, Davis RL (2003). Integrin requirement for hippocampal synaptic plasticity and spatial memory. J. Neurosci. 23: 7107-7116.
  10. Chen HK, Fernandez-Funez P, Acevedo SF, Lam YC, Kaytor MD, Fernandez MH, Aitken A, Skoulakis EM, Orr HT, Botas J, Zoghbi HY (2003). Interaction of akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. Cell 113: 457-468.
  11. Cheng EH, Sheiko TV, Fisher JK, Craigen WJ, Korsmeyer SJ (2003). VDAC2 inhibits BAK activation and mitochondrial apoptosis. Science 301: 513-517.
  12. Das P, Hai M, Elcock C, Leal SM, Brown DT, Brook AH, Patel PI (2003). Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. Am. J. Med. Genet. 118A: 35-42.
  13. Emamian ES, Kaytor MD, Duvick LA, Zu T, Tousey SK, Zoghbi HY, Clark HB, Orr HT (2003). Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice. Neuron 38: 375-387.
  14. Graham BH, Bacino CA (2003). Male patient with non-mosaic deleted Y-chromosome and clinical features of Turner syndrome. Am. J. Med. Genet. 119A: 234-237.
  15. Hattori E, Liu C, Badner JA, Bonner TI, Christian SL, Maheshwari M, Detera-Wadleigh SD, Gibbs RA, Gershon ES (2003). Polymorphisms at the G72/G30 Gene Locus, on 13q33, Are Associated with Bipolar Disorder in Two Independent Pedigree Series. Am. J. Hum. Genet. 72(5): 1131-40.
  16. Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG (2003). Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am. J. Hum. Genet. 72: 1200-1212.
  17. Karsenty G (2003). The complexities of skeletal biology. Nature 423: 316-318.
  18. Lalani SR, Stockton DW, Bacino C, Molinari LM, Glass NL, Fernbach SD, Towbin JA, Craigen WJ, Graham JM, Jr., Hefner MA, Lin AE, McBride KL, Davenport SL, Belmont JW (2003). Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions. Am. J. Med. Genet. 118A: 260-266.
  19. Levy M, Faas GC, Saggau P, Craigen WJ, Sweatt JD (2003). Mitochondrial regulation of synaptic plasticity in the hippocampus. J. Biol. Chem. 278: 17727-17734.
  20. Liang YY, Lin X, Liang M, Brunicardi FC, ten Dijke P, Chen Z, Choi KW, Feng XH (2003). dSmurf selectively degrades decapentaplegic-activated MAD, and its overexpression disrupts imaginal disc development. J. Biol. Chem. 278: 26307-26310.
  21. Lim J, Choi KW (2003). Bar homeodomain proteins are anti-proneural in the Drosophila eye: transcriptional repression of atonal by Bar prevents ectopic retinal neurogenesis. Development 130: 5965-5974.
  22. Lu HC, She WC, Plas DT, Neumann PE, Janz R, Crair MC (2003). Adenylyl cyclase I regulates AMPA receptor trafficking during mouse cortical 'barrel' map development. Nat. Neurosci. 6: 939-947.
  23. Lupski JR (2003). 2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture. Am. J. Hum. Genet. 72: 246-252.
  24. Nam SC, Choi KW (2003). Interaction of Par-6 and Crumbs complexes is essential for photoreceptor morphogenesis in Drosophila. Development 130: 4363-4372.
  25. Nanao MH, Zhou W, Pfaffinger PJ, Choe S (2003). Determining the basis of channel-tetramerization specificity by x-ray crystallography and a sequence-comparison algorithm: Family Values (FamVal). Proc. Natl. Acad. Sci. USA 100: 8670-8675.
  26. Neugebauer V, Li W, Bird GC, Bhave G, Gereau RW IV (2003). Synaptic plasticity in the amygdala in a model of arthritic pain: differential roles of metabotropic glutamate receptors 1 and 5. J. Neurosci. 23: 52-63.
  27. Nishihara E, Yoshida-Komiya H, Chan CS, Liao L, Davis RL, O'Malley BW, Xu J (2003). SRC-1 null mice exhibit moderate motor dysfunction and delayed development of cerebellar Purkinje cells. J. Neurosci. 23: 213-222.
  28. Opal P, Garcia JJ, Propst F, Matilla A, Orr HT, Zoghbi HY (2003). Mapmodulin/leucine-rich acidic nuclear protein binds the light chain of microtubule-associated protein 1B and modulates neuritogenesis. J. Biol. Chem. 278: 34691-34699.
  29. Pappu KS, Chen R, Middlebrooks BW, Woo C, Heberlein U, Mardon G (2003). Mechanism of hedgehog signaling during Drosophila eye development. Development 130: 3053-3062.
  30. Patterson MC, Zoghbi HY (2003). Mental retardation: X marks the spot. Neurology 61: 156-157.
  31. Powell EM, Campbell DB, Stanwood GD, Davis C, Noebels JL, Levitt P (2003). Genetic disruption of cortical interneuron development causes region- and GABA cell type-specific deficits, epilepsy, and behavioral dysfunction. J. Neurosci. 23: 622-631.
  32. Quattrocchi CC, Huang C, Niu S, Sheldon M, Benhayon D, Cartwright J, Jr., Mosier DR, Keller F, D'Arcangelo G (2003). Reelin promotes peripheral synapse elimination and maturation. Science 301: 649-653.
  33. Schimmenti LA, De La Cruz J, Lewis RA, Karkera JD, Manligas GS, Roessler E, Muenke M (2003). Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am. J. Med. Genet. 116: 215-221.
  34. Selcher JC, Weeber EJ, Christian J, Nekrasova T, Landreth GE, Sweatt JD (2003). A role for ERK MAP kinase in physiologic temporal integration in hippocampal area CA1. Learn. Mem. 10: 26-39.
  35. Shibata R, Misonou H, Campomanes CR, Anderson AE, Schrader LA, Doliveira LC, Carroll KI, Sweatt JD, Rhodes KJ, Trimmer JS (2003). A fundamental role for KChIPs in determining the molecular properties and trafficking of Kv4.2 potassium channels. J. Biol. Chem. 278: 36445-36454.
  36. Stancheva I, Collins AL, Van den Veyver IB, Zoghbi H, Meehan RR (2003). A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. Mol. Cell. 12: 425-435.
  37. Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR (2003). Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements. Am. J. Hum. Genet. 72(5): 1101-16.
  38. Strang C, Kunjilwar K, DeRubeis D, Peterson D, Pfaffinger PJ (2003). The role of Zn2+ in Shal voltage-gated potassium channel formation. J. Biol. Chem. 278: 31361-31371.
  39. Suzumori N, Burns KH, Yan W, Matzuk MM (2003). RFPL4 interacts with oocyte proteins of the ubiquitin-proteasome degradation pathway. Proc. Natl. Acad. Sci. USA 100: 550-555.
  40. Szigeti K, Saifi GM, Armstrong D, Belmont JW, Miller G, Lupski JR (2003). Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. Ann. Neurol. 54: 398-402.
  41. Varga R, Kelley PM, Keats BJ, Starr A, Leal SM, Cohn E, Kimberling WJ (2003). Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene. J. Med. Genet. 40: 45-50.
  42. Vitelli F, Viola A, Morishima M, Pramparo T, Baldini A, Lindsay E (2003). TBX1 is required for inner ear morphogenesis. Hum. Mol. Genet. 12: 2041-2048.
  43. Wallis D, Hamblen M, Zhou Y, Venken KJ, Schumacher A, Grimes HL, Zoghbi HY, Orkin SH, Bellen HJ (2003). The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival. Development 130: 221-232.
  44. SE (2003). Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. Am. J. Med. Genet. 118A: 299-301.
  45. Wang P, Pereira FA, Beasley D, Zheng H (2003). Presenilins are required for the formation of comma- and S-shaped bodies during nephrogenesis. Development 130: 5019-5029.
  46. Watase K, Venken KJ, Sun Y, Orr HT, Zoghbi HY (2003). Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. Hum. Mol. Genet. 12: 2789-2795.
  47. Weeber EJ, Jiang YH, Elgersma Y, Varga AW, Carrasquillo Y, Brown SE, Christian JM, Mirnikjoo B, Silva A, Beaudet AL, Sweatt JD (2003). Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome. J. Neurosci. 23: 2634-2644.
  48. Wu X, Viveiros MM, Eppig JJ, Bai Y, Fitzpatrick SL, Matzuk MM (2003). Zygote arrest 1 (Zar1) is a novel maternal-effect gene critical for the oocyte-to-embryo transition. Nat. Genet. 33: 187-191.
  49. Yoo SY, Pennesi ME, Weeber EJ, Xu B, Atkinson R, Chen S, Armstrong DL, Wu SM, Sweatt JD, Zoghbi HY (2003). SCA7 Knockin Mice Model Human SCA7 and Reveal Gradual Accumulation of Mutant Ataxin-7 in Neurons and Abnormalities in Short-Term Plasticity. Neuron 37: 383-401.
  50. Yu D, Baird GS, Tsien RY, Davis RL (2003). Detection of calcium transients in Drosophila mushroom body neurons with camgaroo reporters. J. Neurosci. 23: 64-72.
  51. Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG (2003). Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Hum. Mol. Genet. 12: 2145-2152.
  52. Zhai RG, Hiesinger PR, Koh TW, Verstreken P, Schulze KL, Cao Y, Jafar-Nejad H, Norga KK, Pan H, Bayat V, Greenbaum MP, Bellen HJ (2003). Mapping Drosophila mutations with molecularly defined P element insertions. Proc. Natl. Acad. Sci. USA 100: 10860-10865.
  53. Zhang L, El-Hodiri HM, Ma HF, Zhang X, Servetnick M, Wensel TG, Jamrich M (2003). Targeted expression of the dominant-negative FGFR4a in the eye using Xrx1A regulatory sequences interferes with normal retinal development. Development 130: 4177-4186.
  54. Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH (2003). Mutations in the gamma-Actin Gene (ACTG1) Are Associated with Dominant Progressive Deafness (DFNA20/26). Am. J. Hum. Genet. 73(5): 1082-91.
  55. Zoghbi HY (2003). Postnatal neurodevelopmental disorders: meeting at the synapse? Science 302: 826-830.
  56. Zoghbi HY (2003). Molecular neuroscience: BAC-to-BAC images of the brain. Nature 425: 907-908.

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